Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. [electronic resource]
Producer: 20060403Description: 1167-76 p. digitalISSN:- 0146-0404
- Adaptor Proteins, Signal Transducing
- Alcohol Oxidoreductases -- genetics
- Blindness -- congenital
- Carrier Proteins -- genetics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Eye Proteins -- genetics
- Female
- Genetic Testing -- methods
- Genotype
- Guanylate Cyclase -- genetics
- Humans
- Infant
- Male
- Membrane Proteins -- genetics
- Mutation
- Nerve Tissue Proteins -- genetics
- Oligonucleotide Array Sequence Analysis -- methods
- Phenotype
- Receptors, Cell Surface -- genetics
- Retinitis Pigmentosa -- congenital
- cis-trans-Isomerases
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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